OCNDS journey in Italy

Post navigation

Samuel’s mother has shared their journey in Italy. The English translation is below. The original Italian version follows.

We are grateful to our community who submitted stories leading up to Rare Disease Day. To date, one family has been diagnosed with Okur-Chung Neurodevelopmental Syndrome in Italy. Please read this raw, emotional and honest piece about their journey to diagnosis and their hope to find a cure, to bring awareness to their countrymen, to participate in research and to provide the best life possible for their son. Thank you for sharing your story! We are stronger together!

Hi everyone,

My name is Rossella and I am Samuel’s mother, a fantastic 2-year-old boy.

Samuel was born in September 2016, on a day of pouring rain, after a pregnancy without complication but I went through it with anxiety, not with the typical sensation of joy of a woman is about to become a mother for the first time. The day I found out I was expecting, my legs started to shake terribly. It was a feeling of absolute happiness but at the same time of fear because with happiness often comes the greatest suffering. I wondered how it was possible that something so beautiful could happen to me. I do not know why but it happened. My son is my life, I love him more than anything else in the world and for him I would do anything.

During my pregnancy I had the constant feeling that something would go wrong. I waited until the seventh month of pregnancy to make the first purchases. I looked at the shopping windows but I held back my smile for the fear of letting the happiness I had inside explode and I felt it could be somehow taken away.

After Samuel was born this feeling faded but did not fully disappear. He was 5 days old when during the night I heard him choking because of the gastroesophageal reflux. Our trusted pediatrician prescribed an anti-reflux syrup that partly helped him. However, the following two months were difficult because poor Samuel could only sleep sitting. After that period of time his reflux improved and he didn’t need medication or to sleep sitting. Until recently, I did not witness any other alarming symptoms. Samuel hasn’t had diagnostic tests to determine the origin of his gastric reflux and to what extent, but the pediatrician, after consulting him for a never ending cold, the doctor prescribed the syrup again. The doctor considering the inflammatory state of Samuel was due to gastric juices in his throat.

When Samuel was about a month and a half old, I realized that his eyes were not following my movements. In fact, I noticed it much earlier, but everyone, including pediatricians, told me to wait 40 days, saying newborns should start to see better after this period of time. He also suffered from photophobia so much so that I turned his cradle in the opposite direction of any light source. He also had nystagmus which is the continuous and uncontrolled movement of the eyes.

Thanks to my instinct and my trusted pediatrician who did not underestimate my new-mom concerns, we left for Padua to the Robert Hollaman Foundation which provides advice and support for children with vision impairment. Samuel took all the exams: erg, pev, neurological, orthoptic and ophthalmic. After a couple of days they told us the tragic truth: Samuel was blind, perhaps he could see some the light, but he would be fully blind.

The world collapsed on me. I think that nothing will ever hurt me more than those words of that day 01/19/2017 so bad that going back to those places, smelling those smells, seeing the educators and doctors are still unbearable as Samuel’s disability is still difficult to process. I have learned to live with it but I still cannot manage to think about how many difficulties and suffering he will have to go through in his life and how much effort he will have to make to learn what is taken for granted by others.

The doctors immediately thought my son could suffer from a rare genetic disease. Based on the symptoms and Samuel’s age, they originally considered Leber’s Congenital Amaurosis.

I resigned from work. I admit it was a sacrifice. I gave up everything to dedicate myself to my little angel. Our life was distorted. Nothing was as I had imagined. Nothing made sense anymore. I was looking for a solution – a gene therapy, a miracle. They were dark months, made of tears, anger, of total closure to the outside world, of almost physical pain, of awareness that the feeling that had accompanied me throughout the pregnancy was no longer just a sensation, but a sixth sense. There was still hope – the hope of a misdiagnosis, of a cure discovered by whoever knows where and from.

While we were waiting to take the genetic tests, we began our journey looking for specialists and searching for answers. We spent nights on the Internet. We traveled to Milan, Rome and Naples in search of answers. We returned to Padua to seek advice and support from the Cannero Riviera Center at the Robert Hollman Foundation. My husband even went to the TIGEM (Telethon Institute of Genetics and Medicine) to look for a man of science who could answer our questions. We felt like we were in a race against time with the hope that something could be done … but our search yielded nothing. We also endured two long hospital stays to take in-depth examinations and exclude other diseases.

In the meantime, I tried to find out how much I could about the Leber’s Congenital Amaurosis (LCA). I found the story of Christian Guardino on Facebook, a boy affected by LCA, born blind and healed thanks to the scientific discovery of the gene that caused blindness. Overwhelmed with the desire to do something, hoping my son had the same disease and especially the same genetic mutation, I sent him a message on Messenger, absolutely believing that that message would not be answered. Instead the following day I found his message, Christian’s mom read him my story. She kindly replied and thanks to her, I joined the Facebook group of families with children affected by LCA. Thanks to which I met Silvia, an Italian woman who lives in America. She helped me connect with other parents. She also gave me support and strength.

In November 2017, we got the results of the genetic tests. Samuel was suffering from the rare genetic disease called Okur-Chung Neurodevelopmental Syndrome. They explained it was a neurological disease discovered in 2016, the year he was born, of which little or nothing was known. The same neurologist in Padua did some research to find out more on this disease and told me that unfortunately in literature there were very few cases described and that the answers to the symptoms and health of Samuel would be found only over time. He told us that Samuel might not speak or eat properly, could have problems of motricity, which was already noticed in Padua. He explained that Samuel’s difficulties were not only due to his blindness but also due to problems with his cognitive development, etc….

I cried all night long. The pain seemed unbearable. The fear annihilated me. I was afraid of not being capable. I did not understand the reason why, what I had to do, what I could do in my little town in southern Italy, where ignorance reigns, where for months we have been looking for help without finding it, where there is no idea how to deal with a blind person, where the Okur-Chung Neurodevelopmental Syndrome sounds almost like a dirty word. A thousand questions came to my mind ….

Would my child be happy? Would I be able to communicate with him?

Thanks to Silvia, I was able to contact the Dr. Okur. Unfortunately, I did not receive the answers I was looking for, maybe because it was difficult to interact due to the language barrier. I subscribed to this group. A group of parents who live my own experiences, where I met Jennifer Sills, a super mother who is creating something great to help all our children and thanks to whom I met the wonderful person, Chloe, who helped me to translate this story.

I read immediately all the stories published since the creation of the group. I felt less alone but at the same time frightened by the large number of symptoms that fortunately Samuel did not have, but that terrified me thinking it could happen any time.

As far as I can do on my own, I am trying today to support research, to bring knowledge and awareness in Italy, or at least in a part of it, on this rare genetic disease.

Samuel has grown and exceeded all my expectations. He is a lively child who loves to play. He loves cars and his little horse toy and enjoys experimenting with his hands. He is well integrated into his kindergarten class where he is learning wonderful things and repeats everything he hears. He speaks very well and is starting to build sentences. He loves to color and to listen to music and he moves well to the beat. He walks alone, however, it’s not easy for him to move around and look for objects but we are working on it. He does psychomotricity twice a week, and since last month, thanks to the Italian Union of Blind and Partially Sighted People (UICI), a typhologist meets with Samuel six hours a week.

Samuel has been suffering from sleep disorders these past months. It takes him a while to fall asleep. Often he wakes up in the middle of the night with his eyes closed and sits on the bed with a stiff body and does not want to be touched. He then calms down and comes in our bed a lot of the time.

He has a minimal renal pielectasia of about 9mm, the upper gingival arch is slightly protruding and has not yet received his second molars. He chews well enough but not well enough to be able to eat a larger size of pasta or pieces of meat. He often grinds his teeth. He is nervous especially with me. He tends to crush his eyes with his fingers so he wears glasses, bites the hands of others especially when he is happy, squeezes in his hands the hands of the person he plays with when he’s happy. His behavior sounds very similar to an autistic child I know.

He has been constipated since he was born. We don’t know which disorders are connected to the genetic disease. As a mother I notice and I pay attention to everything, and that might be wrong because observing your child constantly under a magnifying glass is not very healthy.

I’m so happy to be part of this big family, it’s nice to know that I’m not alone.

OUR VOICE

It was a warm and sunny day on Monday April 22, 2019 in Tarzana, California. It was a perfect day for golf! We had a tremendous turn out for the Drive for Diagnosis Golf Classic at El Caballero Country Club. 113 Golfers came out for our 1st Golf Classic to support our collaborative efforts...

2018 YEAR IN REVIEW One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year! We started to fund a...

For Direct Link to YouTube Video, click here Led by the talented and inspirational artist, Tere Casas, adults and children painted what makes them happy and what community means to them. Tere Casas created a short but powerful video of the extraordinary process. Thank you, Tere, for using art to bring us together! CSNK2A1...

Tere Casas is a celebrated and well known artist from Mexico whose work has been showcased around the world. She is an exceptional artist with a huge heart. For Rare Disease Day, she donated her time to show how art can bring a community together. Kids from our Bay Area community transformed a blank...

Come celebrate with The Sills Family & WHAT? Rare Disease Day is to raise awareness for rare diseases and their impact on the lives of patients and families. WHY? Our sweet Jules was diagnosed with a rare genetic disorder in 2016. 1 in 10 people are diagnosed with a rare disease. We all know...

Thank you to all of our sponsors for making our 1st Drive for Diagnosis 2019 Golf Classic a huge success! Thank you for your support and generosity! With your sponsorship we are turning Hope Into Action!...

We walked into the 1st CSNK2A1 Foundation Family Conference as strangers and we finished the weekend as lifelong friends. We now have friends (more like new family) that we can call on at anytime who will understand our excitement when our child hits a milestone, or will understand when its been a tough day...

EVERY DAY I HOPE YOU FEEL LOVED, SEEN, ACCEPTED AND PART OF A COMMUNITY. This was the first time our family, together with our community, celebrated Rare Disease Day. We celebrated in honor of our daughter, Juliet, who has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”), an ultra rare genetic disorder. This celebration documented our huge shift...

Learning and Advocacy for Our Children For parents of children with rare diseases, we are in a constant state of learning. We experience the joy of learning about this amazing new baby in our lives. We learn our child has differences from other children. We learn about those differences through a clinical diagnosis that...

Posts navigation

CSNK2A1 Foundation

We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. CSNK2A1 Foundation is operated and funded through a committed team of volunteers, advocates and researchers.

Disclaimer

The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website.Read more...